In the following list you will find some of the most common rare diseases related to Cryptorchidism and Cleft upper lip that can help you solving undiagnosed cases.
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).
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SOURCES: ORPHANET OMIM MENDELIAN
More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROMECongenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.
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Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly
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SOURCES: OMIM ORPHANET MENDELIAN
More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROMEPOPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome
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X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.
X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type
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SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPEHydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
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Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome
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SOURCES: ORPHANET OMIM MENDELIAN
More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROMEEndocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome
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SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROMESteinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.
STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease
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Symptoms // Phenotype | % cases |
---|---|
Cleft palate | Common - Between 50% and 80% cases |
Cleft lip | Uncommon - Between 30% and 50% cases |
Midface retrusion | Uncommon - Between 30% and 50% cases |
Bilateral cleft lip | Uncommon - Between 30% and 50% cases |
Low-set ears | Uncommon - Between 30% and 50% cases |
Patients with Cryptorchidism and Cleft upper lip. may also develop some of the following symptoms:
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